Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.K859delFs
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UBE3A

NM_000462.5:p.K859delFs

Associated Papers

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Zhong H et al.

Frontiers in Microbiology, 2026

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

Akbari V et al.

Journal of Medical Genetics, 2024

Genetic diagnosis of fetal microcephaly at a single tertiary center in China.

Wang Y et al.

Frontiers in Genetics, 2023

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Du X et al.

Genes, 2022

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Iwama K et al.

Journal of Medical Genetics, 2019

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B et al.

Human Mutation, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."